Variant report

Variant	nsv548737
Chromosome Location	chr1:195901676-195977493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
2	chr1:195908660..195909465-chr11:60896948..60897811,2	MCF-7	breast:
3	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
4	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
5	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
6	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
7	chr1:195933946..195935756-chr1:195940527..195943521,2	K562	blood:
8	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
9	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
10	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:
11	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
12	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
13	chr1:195933946..195935756-chr1:195940527..195943521,2	K562	blood:
14	chr1:195908986..195909573-chr1:196113721..196114467,3	MCF-7	breast:
15	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
16	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
17	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
18	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:
19	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
20	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
21	chr1:195908810..195909713-chr1:195998289..195999101,3	MCF-7	breast:
22	chr1:195908909..195909846-chr1:196117249..196118180,3	MCF-7	breast:
23	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:
24	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
25	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
26	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
27	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
28	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
29	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
30	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
31	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
32	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:
33	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
34	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
35	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
36	chr1:193362912..193364895-chr1:195930412..195933099,2	K562	blood:
37	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
38	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:

No data

Extended variants
information (count: 1431 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1431 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375353722	chr1:195903819-195903820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145787640	chr1:195903824-195903825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549895149	chr1:195903842-195903843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565327774	chr1:195903878-195903879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17633857	chr1:195903910-195903911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116184136	chr1:195903971-195903972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142045141	chr1:195903979-195903980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60989398	chr1:195903984-195903985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565851248	chr1:195904022-195904023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533711503	chr1:195904035-195904036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548770551	chr1:195904086-195904087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567183366	chr1:195904093-195904094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141666762	chr1:195904095-195904096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186652726	chr1:195904097-195904098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76684333	chr1:195904098-195904099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537123473	chr1:195904152-195904153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147675839	chr1:195904163-195904164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558657138	chr1:195904231-195904232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112141605	chr1:195904258-195904259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372742967	chr1:195904264-195904265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576812806	chr1:195904367-195904368	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572173583	chr1:195904408-195904409	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1869045	chr1:195904595-195904596	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs189436462	chr1:195904597-195904598	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576802636	chr1:195904603-195904604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112431811	chr1:195904608-195904609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142330784	chr1:195904629-195904630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553249835	chr1:195904645-195904646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368722555	chr1:195904657-195904658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565118812	chr1:195904680-195904681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532502122	chr1:195904687-195904688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34029490	chr1:195904735-195904736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11590150	chr1:195904792-195904793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140065727	chr1:195908665-195908666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61703682	chr1:195908669-195908670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116007317	chr1:195908798-195908799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557131565	chr1:195908930-195908931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs16839123	chr1:195908996-195908997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539747030	chr1:195908999-195909000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557311999	chr1:195909019-195909020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1451924	chr1:195909031-195909032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs539862142	chr1:195909044-195909045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561398357	chr1:195909076-195909077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193130895	chr1:195909080-195909081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573688382	chr1:195909123-195909124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569578546	chr1:195909135-195909136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544469865	chr1:195909139-195909140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540138312	chr1:195909146-195909147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533436610	chr1:195909152-195909153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3010160	chr1:195909161-195909162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195903800-195904200	Enhancers	Fetal Lung	lung
2	chr1:195904200-195904600	Active TSS	Fetal Lung	lung
3	chr1:195904400-195904800	Enhancers	Fetal Brain Female	brain
4	chr1:195908600-195909600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:195908800-195909400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:195908800-195909600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:195908800-195909600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:195908800-195909800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:195909000-195909400	Enhancers	Gastric	stomach
10	chr1:195909000-195909600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:195909200-195909400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:195909200-195910400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:195909200-195910400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:195909200-195910400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:195909400-195910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:195909400-195910600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:195909600-195910800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:195909600-195910800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:195910200-195910600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:195910400-195911000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:195910600-195910800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:195910800-195911200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:195911000-195911200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:195911000-195911200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:195911000-195911200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:195911000-195911200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:195915600-195916000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:195917200-195918000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:195923600-195924400	Enhancers	Right Atrium	heart
30	chr1:195923800-195924600	Enhancers	Fetal Lung	lung
31	chr1:195924600-195925200	Weak transcription	Fetal Lung	lung
32	chr1:195925200-195925400	Enhancers	Fetal Lung	lung
33	chr1:195925600-195925800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:195926000-195927000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:195926000-195927600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:195926200-195926600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr1:195926200-195926600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:195926200-195926600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:195926200-195927200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:195926400-195926600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:195926600-195929800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:195927000-195927800	Enhancers	NHEK	skin
43	chr1:195927000-195928200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:195927200-195927800	Enhancers	HMEC	breast
45	chr1:195927200-195929200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:195927600-195929600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:195928200-195933800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:195929200-195930000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:195929600-195930000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr1:195929800-195930000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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